ITGAL Color FASTA
The longest form of insertion/deletion sites is shown in the FASTA sequence and contain a '-' as the alternate allele in the variation tag.
*Display courtesy of
GeneSNPs
G
T
T
T
A
A
A
A
C
T
A
A
T
G
G
A
G
C
A
C
A
A
C
C
A
G
T
T
A
C
C
A
A
T
A
T
C
T
T
T
G
T
T
C
C
T
T
C
T
C
50 |
REPEAT
C
A
C
T
C
C
C
T
C
T
G
C
T
T
C
A
C
T
T
G
A
C
T
A
G
C
C
T
AA AATAAATAAA TTTAAAAAA
C
100 |
REPEAT
T
G
G
G
C
A
C
A
G
T
G
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
G
C
150
A
G
G
A
G
G
A
T
T
A
C
T
T
G
A
G
C
A
T
A
G
G
A
G
T
T
C
A
A
G
A
T
C
A
G
C
C
T
G
G
G
C
A
A
C
A
T
A
G
T
200 |
var(166):[A:0.01]
G
A
A
A
A
A
C
C
A
T
C
T
C
A
A
A
A
A
A
G
A
A
A
A
A
T
T
A
G
C
C
A
G
G
C
A
T
G
G
T
G
G
C
A
T
G
C
A
C
C
250
T
G
T
G
G
T
T
T
C
A
G
C
T
A
C
T
T
A
G
G
A
G
C
A
G
A
G
G
T
G
G
G
A
G
G
A
T
C
G
C
T
T
G
A
T
T
C
T
G
G
300
G
A
G
T
T
C
A
A
G
G
T
T
G
C
A
T
T
G
A
G
C
T
G
T
G
A
T
C
G
C
G
C
C
A
G
T
G
C
A
C
T
C
T
C
G
C
T
T
G
G
350 |
var(330):[T:0.01]
G
T
G
A
C
A
G
A
G
C
A
A
G
A
C
C
T
T
G
T
C
T
C
A
A
A
A
A
A
T
T
T
A
A
A
A
C
A
A
A
A
C
A
A
A
A
A
A
A
A
400
CT
G
G
T
T
A
T
T
T
G
T
C
T
T
T
T
T
A
T
T
G
T
T
G
A
A
T
T
A
T
A
A
G
A
G
T
T
T
T
A
A
A
A
A
A
T
A
T
A
450 |
REPEAT
T
T
C
T
G
G
A
A
A
C
A
A
A
T
C
C
C
T
T
A
T
T
A
G
A
G
A
T
A
T
G
A
T
T
T
G
C
A
A
A
T
A
T
T
T
T
C
T
C
C
500
AA
T
T
T
T
T
T
T
T
T
T
T
T
T
T
A
A
A
G
A
C
A
A
A
G
T
T
T
C
A
C
T
T
T
G
T
C
G
C
C
C
A
G
G
C
T
G
G
T
550 |
REPEAT
C
T
T
G
A
T
T
C
C
T
G
G
C
T
T
C
A
A
G
A
G
A
T
G
C
T
C
T
T
A
C
C
T
C
C
A
C
C
T
C
C
T
G
A
A
G
C
C
C
C
600 |
var(562):[C:0.01]
A
A
A
G
G
G
C
T
G
G
A
A
T
T
A
C
A
G
C
C
A
G
T
G
A
G
C
C
A
C
T
G
C
A
C
C
C
A
G
C
C
TCCAATTCT
650
TTAGATTTTA CATTTTAGAA CCAAAATGGG TTAAATACAC TGTTCTGTAA
700
TCTGCTCTTT TCTTTAATAG TAGTTCATGT ACATCTTTCA AGGTCCAGAG
750
AAAGCTCTCA CTTTCTCCCC GTTTTATTTT TCCT
T
C
C
C
T
C
A
T
T
C
T
T
T
T
T
C
800 |
REPEAT
A
C
T
G
C
T
G
C
A
T
A
G
C
A
T
T
C
C
A
T
T
G
T
A
A
T
T
T
T
G
C
C
A
C
T
G
T
T
T
A
T
T
A
G
A
C
C
A
G
T
850
C
C
T
C
T
G
C
T
G
A
GCTTTACAGA GCCCTTAGTT GGGATGTTAG TGAGAAACCA
900
TGACAGCAGT GGAGACTGTC ATCTCCCTGA CATGCTGTCA GCTTTTGGAT
950
GATGTGAAAA TGCAAGCAGG CACAGGAAAT GTCTCTAACT TGCTTACACT
1000
TCCTCCCTGA ACCCCTGCGG TTTCACAACT CCTGCAGGCA CACCTCCCTC
1050
CCCGCCTGCC AGTGTCACCA GCCTGTTGCC TCTGTGAGAA AGTACCACTG
1100
TAAGAGGCCA AAGGGCATGA TCATTTT
C
C
T
C
T
T
T
C
A
C
C
C
T
G
T
C
T
A
G
G
T
T
G
1150 | Exon 1 |
UTR
C
C
A
G
C
A
A
A
T
C
C
C
A
C
G
G
G
C
C
T
C
C
T
G
A
C
G
C
T
G
C
C
C
C
T
G
G
G
G
C
C
A
C
A
G
G
T
C
C
C
1200
T
C
G
A
G
T
G
C
T
G
G
A
A
G
G
A
T
G
A
A
G
G
A
T
T
C
C
T
G
C
A
T
C
A
C
T
G
T
G
A
T
G
G
C
C
A
T
G
G
C
1250
M K D S C I T V M A M A 12
G
C
T
G
C
T
G
T
C
T
G
G
G
T
T
C
T
T
T
T
T
C
T
T
C
G
GTAG GCAAGGGAGG AGGCAGGGGA
1300
L L S G F F F F 20
AGGGACATGT GTCTGTGACC AGAGAAACTG CAGGGCTTGG TGCAGCTGGA
1350
GTAAACAAGG AGCTGCCCCC TAAAAGTGGG ATTGGCCTTA GGGATATGGG
1400
GCCCAGGGAT CTTGGAAGGA GAAAGGGGAG AGTGGGGAAA TAAAAGAAAC
1450
AAATAAGCAA GGGGTGGAGG CAAAGACAGA GAAGGGAGCA TAAGAAGGGG
1500
CAGTGGGTTC TTTAAAAAGA CAGATAG
G
G
C
C
A
G
G
C
G
C
G
G
T
G
G
C
T
C
A
C
G
C
C
1550 |
REPEAT
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
A
G
G
A
G
G
C
T
A
A
A
G
T
G
G
G
C
A
G
A
T
T
A
C
T
T
G
A
G
G
T
C
A
1600
G
G
A
A
T
T
T
A
A
G
A
C
A
G
A
C
T
G
G
C
C
A
A
C
A
T
G
G
C
A
A
A
A
C
C
T
C
G
T
C
T
C
T
A
C
T
A
A
A
A
1650
A
T
A
C
A
A
T
A
A
A
A
T
T
A
G
C
T
T
G
G
C
G
T
G
G
T
G
G
C
A
C
A
G
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
1700 |
var(1672):[A:0.01]
C
T
C
G
G
G
A
G
G
C
T
G
A
G
G
C
A
T
G
A
G
A
A
T
C
A
T
T
T
C
A
T
C
C
C
A
T
G
A
G
G
C
A
G
A
G
G
T
T
G
1750
C
A
G
T
G
A
G
C
C
A
A
G
C
T
C
G
T
G
C
C
A
A
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
T
G
A
C
A
G
A
G
C
A
A
G
1800
A
C
T
C
T
G
T
C
T
C
T
T
A
A
A
C
A
A
C
A
A
A
C
A
A
A
C
A
A
A
A
G
G
C
A
G
A
T
A
G
T
T
A
T
T
G
A
G
T
A
1850 |
REPEAT
G
C
T
A
G
A
G
C
T
G
G
G
A
G
G
A
G
G
G
T
G
C
T
G
G
G
T
T
C
T
G
G
G
G
C
C
A
C
C
T
C
T
G
C
G
C
G
T
T
T
1900
T
A
G
G
C
A
A
G
T
C
C
T
T
T
C
C
C
C
T
T
T
C
C
A
G
C
C
C
C
A
C
A
C
C
C
T
T
C
A
T
C
T
A
A
A
C
A
A
A
T
1950
G
A
A
G
G
CCCAG CCTCCATGAC ATTCTAGGAT GCTCTGAACT AAACTCCATG
2000
CGGGGAGAGA AAGCAGGGCG GAAAGGACAG CTGGGTGTGC CAGGGCGCCT
2050
GGGCAGGCTG ACTGAGGGGG AAGGGAGCTG GGATCTACAG ATGCTCCGAA
2100
AGACTGGCCC GGTGGGGTGG GGAGGCAGCC CCCCAGGGAT CAGGGGAGCT
2150
ACAATCTGAG ACTGTGGGAG GAGGCGCCTG GGCCCCATGA CCGCAGGAGA
2200
AGTGGGTGGC AGAGGCGCAC CCGGCTCGGG GGCATCCCCA TCTTGGCCTC
2250
TGCCTGAGAA CTTGGTCACC CTCTGCCTTG GGGCCCCTTG GGTCTGCTCC
2300
TCTCTCTGGA GCCTCTAACT TCTCATCCTT CCTTTTTTGC AGAGAGGCCA
2350
AACGGGAAGT TGTATCCTCA GGCCCTGGGA AGAGCTTTCA GAGCTCTAGG
2400
GGGGCCGGGA GTTGCTCCTT CCATATTCCC AGAAGTCAAC GCCCTGGAG
C
2450 |
var(2450):[G:0.38]
GGAAGCGCAG GGTGCGGGTG GCCTGGGGAG CGACATCCGG GTGGGCCTGG
2500
GATCGGCCAC CTGCTGGGCA CGTGCAGGGG CGGGGGTCCC TCGGTCGCAG
2550
CTGACGACCC TTGCCTTCCT CAG
C
G
C
C
G
G
C
C
T
C
G
A
G
C
T
A
C
A
A
C
C
T
G
G
A
C
G
2600 | Exon 2
A P A S S Y N L D 29
T
G
C
G
G
G
G
C
G
C
G
C
G
G
A
G
C
T
T
C
T
C
C
C
C
A
C
C
G
C
G
C
G
C
C
G
G
G
A
G
G
C
A
C
T
T
T
G
G
A
2650
V R G A R S F S P P R A G R H F G 46
T
A
C
C
G
C
G
T
C
C
T
G
C
A
G
G
T
C
G
G
A
A
A
C
G
G
GTGA GCTGTGCCCC ACAAGTCCTC
2700
Y R V L Q V G N G 55
CTCCTGATGC CCGCCCTGGG GCAGCCCCCG AGGCGGTGGC CGCCTCCCCG
2750
ACCCTCGCCT GGGCTAGTCG GTGGCACGAG GCAGCTCTCC AGGGGTTCCC
2800
GTCTGGAGGA GCCTGTGGTG GGAATCCTCA GAGACAGGAG TGAGGGATCA
2850
AAAAGCGGGA TACACGCGAT CAGGGAGGCC ATGGAAGTGC AGAACAGGGA
2900
AGGATCCCAG CCCCAAAACA CTTCGCATTG CCCAGTAGGT TCCTGACACT
2950
CCCTTACTCC CCTGCGAGCG CCTGGAAGCC AGGAGTCTGT TCTCTCTTCC
3000
TAACCCTTCT TAGATACGCC ACCGCCCAGC ACACAGTAGG TAAGCCATGA
3050
ATGGCTTTTG AATCAAGGAT TGAATGAATG TACTTATCAT GAGACATTCT
3100
GGCGGATCAT TCTCTGGGCC TCAGAGACTG TAAATGCAAA GGAACCTTAA
3150
TTTTCTAGGA TTTTAGCATT TGGAATTATT TCTCTGCGAT TCTGTAGGGA
3200
AGAGATGAGG ACGGAGGCAT CTTC
T
T
T
T
T
T
T
T
T
T
T
T
T
C
T
T
T
T
T
T
T
T
T
T
T
T
3250 |
REPEAT
T
T
G
A
G
A
G
G
G
A
G
T
T
T
T
C
G
C
T
C
T
T
G
T
C
G
C
C
C
A
G
G
C
T
G
T
A
G
T
G
C
A
A
C
G
G
T
T
A
G
3300 |
var(3276):[A:0.01]
A
T
C
T
C
A
C
C
T
C
T
C
T
G
C
A
A
T
C
T
G
T
G
C
C
T
C
C
C
A
G
G
T
T
C
A
A
G
C
C
A
T
T
C
T
C
C
T
G
C
3350
C
T
C
A
G
C
C
T
C
C
C
A
A
A
T
A
G
A
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
C
A
C
C
A
C
C
A
C
G
C
T
G
G
G
C
3400 |
var(3393):[T:0.09]
T
A
A
T
T
G
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
G
G
G
G
T
T
T
C
A
C
C
A
T
A
T
T
G
G
C
C
A
G
G
C
T
3450
G
G
T
C
T
C
A
A
G
T
T
C
C
T
G
A
C
C
T
C
A
G
G
T
G
A
T
C
C
A
C
C
G
A
C
A
T
C
G
G
C
C
T
C
C
C
A
A
A
G
3500 |
var(3488):[A:0.02]
T
A
C
T
T
T
G
G
C
C
T
C
A
T
G
C
G
A
A
A
G
T
T
A
C
A
G
G
C
A
T
G
A
G
C
C
A
C
C
C
C
A
C
C
T
G
G
C
C
A
3550
GAGGCACCTT CTTGAAGGGG AATGGCTGCA GTGCTTGGAG AAATGAGACA
3600
GGAGATCTGA ACCTCCTTAG CAGGCAGGAG TAGATGGGTA CAGATCTGGG
3650
CCACTCCCTC TCACAGGTGA GATTTCTCAC CAG
G
G
T
C
A
T
C
G
T
G
G
G
A
G
C
T
C
3700 | Exon 3
V I V G A 60
C
A
G
G
G
G
A
G
G
G
G
A
A
C
A
G
C
A
C
A
G
G
A
A
G
C
C
T
C
T
A
T
C
A
G
T
G
C
C
A
G
T
C
G
G
G
C
A
C
A
3750
P G E G N S T G S L Y Q C Q S G T 77
G
G
A
C
A
C
T
G
C
C
T
G
C
C
A
G
T
C
A
C
C
C
T
G
A
G
A
G
GT GAGTAACTGG GGGGTGAGCT
3800
G H C L P V T L R 86
GGGAGGAATG GGATCTTGGG GAAACTGAGG CTGGCCCCAG CCCACCTAGA
3850
CTGCCTGAGC TCCTCCAGAC CAACCTTCTG GTGCCTACAG
G
T
T
C
C
A
A
C
T
A
3900 | Exon 4
G S N Y 90
T
A
C
C
T
C
C
A
A
G
T
A
C
T
T
G
G
G
A
A
T
G
A
C
C
T
T
G
G
C
A
A
C
A
G
A
C
C
C
C
A
C
A
G
A
T
G
G
A
A
3950
T S K Y L G M T L A T D P T D G 106
G
C
A
T
T
T
T
G
GT AAGAATTTTG TGCAGTGGTG TTATCAGAGC CTGTGAAGCT
4000
S I L 109
CAATTCAAGT AATGAGAGAA GAAAAGAAGA AGAATGTGGA TAAAAGTTCC
4050
CACAGATGGT CAAAGGCATC AGAGTCAATT AGTGTTTATT GAGAACCAAT
4100
GATGAACCAG CC
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
A
A
G
G
T
C
T
4150 |
REPEAT
|
NOT SCANNED
C
A
T
T
C
T
A
T
T
A
T
T
C
T
A
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
G
T
G
A
T
C
A
C
A
G
C
4200
T
C
A
T
T
G
T
A
G
C
C
T
C
A
A
C
C
T
C
C
C
T
G
C
A
C
T
C
A
A
G
T
A
A
T
C
C
T
C
C
C
A
C
C
T
C
A
G
C
C
4250
T
C
C
C
A
A
T
T
A
G
C
T
G
G
G
A
C
T
A
T
A
G
G
C
G
C
A
T
G
C
T
A
C
C
A
T
G
C
C
C
A
G
C
T
A
A
T
T
T
T
4300
T
A
T
A
T
T
T
T
T
T
G
T
A
G
A
C
A
G
A
G
A
G
T
G
T
C
A
C
C
A
T
G
T
T
G
C
C
C
A
G
A
C
T
G
G
T
C
T
T
G
4350
A
G
C
T
C
A
A
G
A
A
T
C
C
T
C
C
T
G
C
C
T
C
T
A
A
T
C
C
C
A
G
C
A
C
T
T
G
G
G
A
G
G
C
C
G
A
G
G
C
A
4400 |
REPEAT
G
G
C
G
G
A
T
C
A
C
G
A
G
G
T
C
A
G
G
A
G
A
T
C
G
A
G
A
C
C
A
T
C
C
T
G
G
C
T
A
A
C
A
C
G
G
T
G
A
A
4450
A
C
C
C
C
C
A
T
C
T
C
T
A
C
T
A
A
A
A
A
C
A
C
A
A
A
A
A
A
T
C
A
G
C
C
G
G
G
C
A
T
G
G
T
C
G
C
G
G
G
4500
C
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
G
C
A
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
G
G
T
G
T
G
A
A
4550
C
C
C
G
G
G
A
G
G
C
G
G
A
G
C
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
C
A
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
4600
C
C
T
G
G
G
C
G
G
C
A
G
A
G
T
G
A
A
A
T
T
C
C
G
T
T
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
A
T
C
T
T
C
C
4650 |
REPEAT
T
G
C
C
T
C
A
G
C
T
T
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
T
G
A
G
C
C
A
C
C
A
C
A
C
C
C
A
4700
G
C
AGAGCCAG CTATTTTCAA TAACTTAACC TCACTTTTCT TCCAAATATG
4750
AAATATCTGT GATCATTGAT ATGCAATATG ATTTTTAGTG GTATACAAAC
4800
TTTTAATGTT TTCATGGTTA TAAATTTAAT GGCTTATTAG AAAAAAATAT
4850
ATGACAAGCA CATCAAATTT ATAATTTCTT ACATCATATT GCTTAGGAAG
4900
AGGCTGAAGT TAAACAAAA
A
T
T
T
A
A
A
G
G
A
A
A
A
T
A
T
T
A
A
G
A
A
A
A
T
A
A
T
A
G
T
4950 |
REPEAT
A
T
G
C
T
C
A
T
A
T
G
G
C
A
G
A
T
A
T
T
G
T
G
A
A
G
T
A
T
T
A
C
A
C
A
A
A
T
G
C
C
T
A
A
A
G
T
T
T
A
5000
G
G
A
A
A
C
A
C
T
G
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
A
G
A
G
T
T
T
C
A
C
T
C
T
T
G
T
C
A
5050 |
REPEAT
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
T
G
A
T
C
T
C
A
G
T
T
C
A
C
T
G
C
A
A
C
C
T
C
C
G
C
C
T
5100 |
var(5081):[A:0.05]
C
C
T
G
A
G
T
T
C
A
A
A
C
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
G
G
A
G
T
A
G
C
T
G
G
G
A
T
T
A
5150 |
var(5101):[T:0.01]
C
A
G
G
C
G
T
G
T
G
C
C
A
C
C
A
T
G
C
C
T
T
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
T
5200
G
G
G
G
T
T
T
C
G
C
C
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
C
G
T
A
C
T
C
C
T
G
A
C
C
T
G
A
G
G
T
G
5250
A
T
C
T
G
C
C
C
G
C
C
T
C
G
G
C
C
T
C
C
C
A
A
A
A
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
A
G
C
T
A
C
5300
C
A
C
A
C
C
T
G
G
T
C
ACT
T
T
A
T
T
T
C
T
T
T
T
A
A
A
C
C
C
T
C
A
A
G
A
C
A
C
T
C
C
G
G
T
G
A
G
A
5350 |
REPEAT
T
A
G
G
G
A
T
C
A
G
T
G
T
A
C
A
C
A
T
T
T
C
A
C
A
C
A
C
G
A
G
G
A
A
A
C
A
G
G
A
C
C
A
A
A
G
G
G
T
T
5400
A
A
G
A
G
A
C
T
T
G
A
C
C
A
A
G
G
T
C
A
C
A
T
G
G
T
T
G
C
A
A
A
G
T
G
G
T
A
G
A
G
T
C
A
G
G
A
T
T
T
5450
G
A
A
T
A
A
A
A
T
T
C
T
C
A
T
T
T
G
A
T
C
C
C
A
A
G
T
T
C
A
T
T
G
C
T
C
T
C
T
C
CAACTTATCC
5500
CAGCCAGCAT CCTTCTGTGT GAGAGA
T
AGA AGACTGAGTG AAATATTCAT
5550 |
var(5527):[C:0.01]
CCAGTATTTA AGTAGA
G
C
T
T
G
T
T
T
A
T
T
T
A
G
C
T
A
C
T
A
T
T
A
T
A
G
C
C
A
G
G
C
A
T
5600 |
NOT SCANNED
T
G
G
G
C
G
A
G
G
T
T
C
T
G
A
C
A
G
G
G
G
A
A
G
G
G
G
A
G
T
G
A
G
A
T
A
C
A
A
A
G
T
T
G
A
T
G
A
G
G
5650 |
REPEAT
C
C
G
G
G
C
T
G
G
T
G
G
C
T
C
A
C
A
T
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
A
G
C
C
A
A
A
G
C
5700
T
G
G
A
G
G
A
T
T
G
C
T
T
G
A
G
G
C
C
A
G
G
A
G
T
T
C
A
A
G
A
C
C
A
G
C
C
T
G
G
T
C
A
A
T
C
C
T
G
T
5750
C
C
C
T
A
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
T
G
T
T
T
T
T
T
T
C
A
T
T
A
G
C
T
G
G
G
C
A
T
G
G
T
G
G
C
A
5800
C
A
C
A
C
G
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
A
T
C
A
G
T
T
G
A
G
G
C
C
A
G
G
A
G
T
T
C
5850
A
A
G
G
C
T
G
C
A
G
T
G
A
G
C
T
T
G
A
T
C
A
T
A
C
C
A
C
T
A
C
A
C
T
A
C
A
G
C
C
A
G
G
G
A
G
A
C
A
G
5900
A
G
T
G
A
G
A
C
C
T
G
T
G
T
C
T
A
A
A
A
A
G
A
A
C
A
A
A
A
A
C
A
A
A
A
C
A
A
A
G
C
A
A
A
A
A
G
A
T
G
5950
A
C
C
A
T
G
A
T
A
C
A
A
G
C
C
C
A
G
A
C
T
T
T
G
A
A
G
A
A
A
T
T
G
C
A
A
T
C
T
G
G
C
A
G
G
A
A
A
G
G
6000
G
T
C
A
T
A
A
A
T
G
A
A
A
G
A
A
A
T
G
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
A
C
A
G
G
T
G
G
A
T
C
G
C
T
T
6050 |
REPEAT
G
A
G
C
C
T
A
G
G
A
G
T
T
T
A
A
G
A
C
T
G
G
C
C
T
G
G
G
C
A
A
C
A
T
G
G
C
A
A
A
A
T
G
C
C
A
T
C
T
C
6100
T
A
C
A
A
A
A
A
A
A
A
A
A
A
A
T
A
G
C
C
A
G
G
C
A
T
G
G
T
G
G
C
G
T
G
T
G
C
C
T
G
T
A
G
T
C
C
C
A
G
6150
C
T
A
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
T
A
G
G
A
G
A
A
T
C
A
C
C
T
G
A
G
C
C
C
A
G
G
A
A
G
T
T
G
A
G
G
6200
C
T
G
C
A
G
T
G
A
G
C
C
A
T
G
A
T
T
G
T
C
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
T
G
A
T
G
G
G
A
G
6250
T
G
A
G
A
C
C
T
G
A
A
A
A
G
A
A
A
G
A
A
A
G
C
A
A
G
G
A
A
A
G
A
A
A
G
C
A
A
G
A
A
A
G
C
A
A
A
G
A
A
6300
A
G
G
A
A
A
G
A
A
A
G
A
A
A
G
G
A
C
G
G
A
G
G
G
A
G
G
G
A
G
G
G
A
A
G
G
A
A
G
G
A
A
G
G
G
G
A
G
A
G
6350
G
A
G
G
A
G
A
G
A
G
A
G
A
T
A
G
G
A
A
G
G
A
A
G
G
A
A
G
A
A
G
A
A
A
A
A
G
A
A
A
G
A
T
G
A
A
G
G
A
A
6400
G
G
A
A
G
G
A
G
A
A
G
G
A
A
G
G
A
A
G
G
A
A
A
G
A
A
A
G
A
A
A
A
G
G
C
T
G
G
G
T
G
C
A
G
T
G
G
C
T
C
6450 |
REPEAT
A
C
T
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
G
T
G
G
G
C
A
G
A
C
A
C
A
A
G
G
T
6500
C
A
G
G
A
G
T
T
T
G
A
G
A
C
C
A
T
C
C
T
G
G
C
C
A
A
T
A
T
G
G
T
G
A
A
A
C
C
C
C
G
T
C
T
C
T
A
C
T
A
6550
A
A
A
G
T
A
C
A
A
A
A
A
T
T
A
A
C
T
G
G
G
C
G
T
G
G
T
G
G
T
G
G
G
C
A
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
6600
A
C
T
G
A
G
G
A
G
G
T
T
G
A
G
G
C
A
G
G
A
G
A
A
T
C
A
C
T
T
G
A
A
C
C
C
G
G
G
A
A
G
C
A
G
A
G
G
T
T
6650
G
C
A
G
T
G
A
G
C
C
A
A
G
A
T
C
G
C
A
C
C
A
C
T
G
C
A
C
T
C
C
A
G
A
C
T
G
G
G
T
G
A
C
A
A
A
G
C
G
A
6700
G
A
C
T
C
C
G
T
C
A
A
A
A
A
A
A
A
A
A
A
A
G
A
A
A
G
A
A
A
G
A
A
A
A
A
G
A
A
A
G
A
A
A
G
T
G
G
G
G
G
6750
G
C
G
G
A
G
G
G
G
A
G
G
G
G
A
G
A
G
G
A
A
G
G
G
A
A
A
A
A
G
A
A
A
G
A
A
A
G
A
G
G
C
A
T
G
G
C
C
G
G
6800 |
REPEAT
G
C
G
C
G
G
T
G
G
C
T
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
G
C
A
G
G
6850
C
A
G
A
T
C
A
C
G
A
G
G
T
T
G
G
G
A
G
A
T
C
A
A
G
A
C
C
A
T
C
C
T
G
G
C
T
A
A
C
A
C
G
G
T
G
A
A
A
C
6900
C
C
C
G
T
C
T
C
T
G
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
A
T
T
A
G
C
C
G
G
G
T
G
T
A
G
T
G
G
C
G
G
G
T
G
C
6950
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
C
A
G
A
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
G
G
C
G
T
G
A
A
C
C
C
7000
G
G
G
A
G
G
C
G
A
A
G
C
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
C
A
T
G
C
C
A
T
G
C
A
G
T
C
C
A
G
C
C
T
A
7050
G
G
C
G
A
T
A
G
A
G
C
G
A
A
G
A
C
T
C
C
A
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
A
A
G
A
A
7100
A
G
A
A
A
G
A
G
G
C
A
C
T
G
T
A
T
A
T
T
C
T
G
G
G
A
A
T
C
T
T
G
A
T
A
A
T
T
T
G
A
T
T
T
G
G
C
T
G
G
7150
A
A
C
A
C
A
G
A
A
A
A
A
G
A
G
A
T
T
G
G
G
A
C
T
A
G
G
A
GA AGATGGACCT GGAAATGTGG
7200
GGTCGTGCCC AGTGTAAGCC CAGATAAGGA GTCCAGACTC ACCACCAGTC
7250
CTACAGGCGG TGAGCATCCA TTGGCATAGA GCATTGGTAG GATGGGAGGG
7300
ATGGACAGTA GAGACTGTGG AGGCGGACAT TCCTTGCCTT GGTAACCAGT
7350
TGGATAGAGG AAGTGAGAAA GAGGACAAGG ACTCTGAACG TTCCTAGTTT
7400
TGGTTGATGT TGCCCAAAAG ACACATAGCA AATAGGAGAC CCAAATCTTT
7450
GGCCTTTGCT TTCTTTAG
G
C
C
T
G
T
G
A
C
C
C
T
G
G
G
C
T
G
T
C
T
C
G
A
A
C
G
T
G
T
G
A
7500 | Exon 5
A C D P G L S R T C D 120
C
C
A
G
A
A
C
A
C
C
T
A
T
C
T
G
A
G
T
G
G
C
C
T
G
T
G
T
T
A
C
C
T
C
T
T
C
C
G
C
C
A
G
A
A
T
C
T
G
C
7550
Q N T Y L S G L C Y L F R Q N L 136
A
G
G
G
T
C
C
C
A
T
G
C
T
G
C
A
G
G
G
G
C
G
C
C
C
T
G
G
T
T
T
T
C
A
G
G
GTAA GGAACTGGGG
7600 |
var(7572):[A:0.01]
Q G P M L Q G R P G F Q 148
ACTCATTGGG TAAAAATACC TCCAAATGGC TGTCCCTAGA GAGAACCAGC
7650
ATGGGCAGGT CAAACACCAG AGATGCTTCA CTGGGTCCCT TGC
G
TCTGGC
7700 |
var(7694):[A:0.01]
TTCTGCAG
A
A
T
G
T
A
T
C
A
A
G
G
G
C
A
A
C
G
T
A
G
A
C
C
T
G
G
T
A
T
T
T
C
T
G
T
T
T
G
A
T
G
7750 | Exon 6
E C I K G N V D L V F L F D 162
G
T
T
C
G
A
T
G
A
G
C
T
T
G
C
A
G
C
C
A
G
A
T
G
A
A
T
T
T
C
A
G
A
A
A
A
T
T
C
T
G
G
A
C
T
T
C
A
T
G
7800
G S M S L Q P D E F Q K I L D F M 179
A
A
G
G
A
T
G
T
G
A
T
G
A
A
G
A
A
A
C
T
C
A
G
C
A
A
C
A
C
T
T
C
G
T
A
C
C
A
G
G TAAAAAAG
T
T
7850 |
REPEAT
K D V M K K L S N T S Y Q 192
A
G
T
T
A
G
G
A
T
T
C
T
T
G
G
T
T
G
C
A
T
G
C
A
A
T
A
G
A
T
G
C
C
T
A
C
C
T
G
A
A
C
T
G
A
C
T
T
A
A
7900
A
C
C
A
T
G
A
A
A
G
G
A
A
A
T
GTTAG TATGTGGAAT CCTCAGAGCC TATGGGCATG
7950 |
var(7911):[A:0.09]
GCTATAACTG GGCCTCTGGA AGGGACAAGA ACCAGGGAGT AGAAAGCTTC
8000
TAGGAGTCTC TCTAGTTCTC ATTTCC
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
8050 |
REPEAT
T
T
T
T
T
G
A
G
A
T
G
G
A
G
T
T
T
T
G
C
T
C
T
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
A
T
G
G
C
A
8100
C
A
A
T
C
T
C
G
A
C
T
C
A
C
T
G
C
C
T
C
C
C
A
G
G
T
T
C
A
A
G
C
A
A
G
T
C
A
C
C
T
G
C
C
T
C
A
G
C
C
8150
T
C
C
C
A
A
G
T
A
G
C
T
G
G
T
A
T
T
A
C
A
G
G
C
A
A
C
T
G
C
C
A
C
T
A
C
A
C
C
C
A
G
C
T
G
A
T
T
T
T
8200
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
T
G
T
T
T
C
A
C
C
A
T
G
T
T
G
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
8250
A
C
T
C
C
T
G
A
C
C
T
T
G
T
G
A
T
C
T
G
C
C
C
A
C
C
T
T
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
8300
A
C
A
G
G
C
G
T
G
A
G
C
C
A
C
C
G
T
G
C
A
C
A
G
C
C
A
T
T
T
T
T
T
C
T
T
T
T
T
G
A
G
A
C
A
G
G
G
T
C
8350 |
REPEAT
T
C
A
C
T
G
T
G
T
C
C
C
C
A
A
G
G
C
T
G
G
A
A
T
C
A
T
G
G
T
G
G
C
A
C
G
A
T
C
A
T
A
G
C
T
C
A
C
T
G
8400
T
A
G
C
C
T
C
A
A
A
C
T
C
C
T
G
G
G
C
T
C
A
A
A
T
G
A
T
C
C
T
C
C
C
A
A
C
T
A
G
C
T
G
G
G
A
C
T
A
C
8450
C
C
A
T
G
T
G
C
A
C
C
A
C
T
G
T
G
C
G
T
G
G
C
T
A
A
T
T
T
T
T
A
A
A
T
T
T
T
C
T
G
T
A
G
A
G
A
T
G
G
8500
T
T
T
A
T
C
A
T
T
G
T
G
T
T
G
C
C
C
A
G
A
C
T
G
G
T
C
C
C
A
A
A
C
T
C
C
T
G
G
A
T
C
T
C
T
C
A
A
G
A
8550
G
A
T
C
C
T
C
C
T
G
C
C
T
T
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
A
G
C
C
A
8600
C
T
G
T
G
C
C
C
A
G
C
T
AGTTCTCA TTTCTGTTTC TTTTTGCGTC TTTGCTTCCT
8650
TCTTCTCTTT TCTCAGTCTC CGTAGACTGG CTCCCTTAGC GCCTTTAGAC
8700
CACATAGACC TATGGAAAGC TCCTAAGTTC ATGTGTTAAA GTTCCAAGAG
8750
GGTTTTTTAC CTTCCCCTCA ACCAACACCT CCCTTTGCAA ATTTCCAGTT
8800
CTCAGAGAAG AGGTTCTGGC TGGCGTAGCT TCAGTCAGG
T
GTTGATCCCC
8850 |
var(8840):[C:0.06]
GGCCCAGCCA ACTGTATCTA GTTAAGCAGC GTCACTCAGC AGAAATATGG
8900
CTGCTGGAAC CCATCCCTAT CAGTGACATA GGTGGACCCA GAAAACAGGA
8950
GCTCAACACA CAGTGTTACA TGAGGGAGCA AGGTTTATTT CATTTTATTT
9000
CTGTGTTTAT TTGTATATTG CCTCATTTTC AAAAGAATTA TCTGAGGCAA
9050
GGATGTGGAG TTGGGTTGCC CAGGTCCTGC ATAAGAAGAG ATTG
A
G
C
C
A
G
9100 |
REPEAT
G
C
A
T
A
G
T
G
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
A
T
T
G
G
G
A
G
G
C
T
T
A
G
C
C
G
G
G
9150
A
G
G
A
T
C
A
C
T
T
G
A
A
G
C
C
A
G
G
A
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
A
G
G
C
A
A
C
A
T
A
G
C
A
A
G
9200
A
C
C
C
C
A
T
T
T
C
T
A
C
A
A
A
A
A
A
T
A
A
A
A
A
C
T
A
G
C
C
A
A
G
T
G
T
G
G
T
G
G
C
A
C
G
T
G
C
C
9250 |
NOT SCANNED
T
G
A
A
G
T
C
C
C
A
G
C
T
A
C
T
T
C
G
G
A
G
G
C
T
G
A
C
G
A
G
G
G
A
G
G
A
T
G
G
C
T
C
G
A
G
C
C
T
G
9300
G
G
A
G
G
C
T
G
A
G
G
C
T
G
C
A
G
T
G
A
G
C
T
A
T
G
A
T
T
G
T
G
A
C
C
G
T
G
C
A
C
T
C
C
A
G
C
C
T
G
9350
G
G
A
G
A
C
A
G
A
A
C
A
A
G
A
C
C
C
T
G
T
T
T
T
G
A
A
A
A
A
G
A
A
G
A
A
G
T
A
G
A
G
T
T
T
G
G
G
G
C
9400 |
REPEAT
T
G
G
G
C
A
C
G
G
T
G
G
C
T
C
A
T
G
C
C
T
G
T
A
A
T
C
C
T
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
9450
A
G
G
T
G
G
A
T
C
A
C
C
T
G
A
G
G
T
G
A
G
G
A
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
T
A
T
G
G
T
9500
G
A
A
A
C
A
C
C
G
T
C
T
C
T
A
C
T
A
A
A
A
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
9550
C
A
C
A
C
A
C
A
C
A
C
C
A
C
A
C
A
C
A
C
A
C
A
A
A
T
A
T
T
C
G
G
G
T
G
T
G
G
T
G
G
C
A
C
G
T
G
C
C
T
9600 |
REPEAT
G
T
A
A
T
C
G
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
T
G
A
A
A
A
T
C
G
C
T
G
G
A
A
C
C
C
G
G
9650
G
A
G
G
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
A
A
G
A
T
T
G
T
G
C
C
A
G
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
9700
G
C
A
A
C
A
A
G
A
G
C
G
A
A
A
C
T
C
C
A
T
C
T
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
A
GT
9750 |
var(9747):[C:0.28]
AGAGTTTGGA ACAGACAAAT GGAAAGGGAT ATATAACTGA ATGTCATTTC
9800
TTCCTTCCTT TTCTAG
T
T
T
G
C
T
G
C
T
G
T
T
C
A
G
T
T
T
T
C
C
A
C
A
A
G
C
T
A
C
A
A
A
A
9850 | Exon 7
F A A V Q F S T S Y K 203
C
A
G
A
A
T
T
T
G
A
T
T
T
C
T
C
A
G
A
T
T
A
T
G
T
T
A
A
A
C
G
G
A
A
G
G
A
C
C
C
T
G
A
T
G
C
T
C
T
G
9900 |
var(9880):[T:0.03]
T E F D F S D Y V K R K D P D A L 220
C
T
G
A
A
G
C
A
T
G
T
A
A
A
G
C
A
C
A
T
G
T
T
G
C
T
G
T
T
G
A
C
C
A
A
T
A
C
C
T
T
T
G
G
T
G
C
C
A
T
9950
L K H V K H M L L L T N T F G A I 237
C
A
A
T
T
A
T
G
T
C
G
C
GTGAGTTC CCTTTTGCAG GAGAGCACGT GTCCTGTGAT
10000
N Y V A 241
TTGTTCTGGG TGATCTACCC ACTTCCAGCT GCAGGGCATG GGAACTCAGT
10050
AGGTAGGTAC AGCAAGGGGC AGTTTATTGT CTGAATTGAA GTGGAACAAT
10100
TTTACTGCAG ATTCTTTTGG TTGTACGTAA C
A
G
A
A
A
T
C
T
A
C
T
C
T
G
T
A
C
T
A
10150 |
REPEAT
A
T
T
A
A
A
T
C
C
A
A
G
A
G
A
A
A
G
T
C
T
A
A
G
C
C
A
G
G
T
G
C
A
C
A
G
T
C
T
G
T
A
A
T
C
C
C
A
G
G
10200
G
C
T
T
T
G
G
G
A
A
G
C
T
G
A
G
G
C
A
G
G
A
G
G
A
T
C
T
T
T
T
G
A
G
C
C
C
A
G
A
A
G
T
T
TTTGTT
10250
TGTTTGTTTG G
T
T
T
T
T
G
G
T
T
T
T
T
G
T
T
T
T
T
G
T
T
T
T
T
T
G
A
G
A
T
G
G
A
G
T
T
T
C
G
10300 |
REPEAT
C
T
C
T
T
G
T
T
G
C
C
C
A
G
G
C
T
G
T
A
G
T
G
C
A
A
T
G
G
C
A
T
G
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
A
10350
C
C
T
C
C
A
C
C
T
C
C
C
A
G
G
T
T
C
A
A
G
C
C
A
T
T
C
T
C
C
T
G
C
C
T
C
C
G
C
C
T
T
T
C
A
A
G
T
A
G
10400
C
T
G
G
G
A
T
T
A
C
A
G
A
C
C
T
G
T
G
C
C
A
C
C
A
C
G
C
C
T
G
G
C
T
A
A
T
T
T
T
T
T
T
T
G
T
A
T
T
T
10450
T
T
A
G
T
A
G
A
G
A
T
A
G
G
C
T
T
T
C
A
C
C
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
A
C
T
C
A
A
A
C
T
C
C
T
10500
G
A
C
C
T
C
A
G
G
T
G
A
T
C
C
A
C
C
T
G
C
C
T
C
A
C
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
10550
G
T
G
T
G
A
G
T
C
A
C
C
A
C
A
C
C
T
G
G
C
C
TA
T
G
A
G
C
C
A
G
G
A
G
T
T
T
G
A
A
G
C
T
G
C
A
G
T
G
10600 |
REPEAT
A
G
C
T
A
T
G
A
T
C
A
C
A
C
C
A
T
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
A
C
A
A
C
A
G
A
G
C
A
A
G
A
T
C
T
T
10650 |
NOT SCANNED
A
A
C
T
C
T
A
A
G
A
A
A
T
T
A
A
A
A
A
T
A
A
A
T
T
A
A
A
A
A
A
G
A
A
G
A
G
C
C
A
G
G
A
C
A
C
C
A
A
T
10700 |
REPEAT
G
T
G
G
C
C
G
G
A
G
A
G
A
A
A
T
A
A
G
T
G
A
G
G
G
G
G
G
A
A
A
A
T
A
G
T
A
G
G
T
G
A
T
G
A
G
G
T
C
A
10750
G
A
G
A
G
A
T
C
A
T
G
A
G
G
G
T
C
T
G
G
A
T
G
G
G
T
T
A
G
T
G
A
C
T
T
G
G
A
G
A
C
C
A
T
A
G
T
G
A
G
10800
G
A
C
T
T
T
G
G
C
T
T
T
C
C
T
C
T
G
A
G
T
A
A
G
A
T
G
A
G
A
A
G
T
C
A
T
T
A
G
A
G
G
T
T
T
T
G
A
G
T
10850
A
G
A
G
G
A
G
T
G
A
T
G
A
T
C
T
A
T
G
T
T
T
T
T
T
A
A
A
A
G
A
T
C
C
C
T
C
T
G
G
C
T
G
C
A
G
G
G
T
T
10900
G
A
T
A
T
T
A
G
A
C
T
G
T
A
G
A
G
G
G
G
G
C
A
A
G
G
G
C
G
G
G
T
G
G
A
A
G
T
G
A
T
A
G
G
G
C
C
A
G
T
10950
T
A
G
A
A
G
G
C
T
A
C
T
G
A
A
A
A
A
T
C
C
A
G
A
T
G
A
G
A
G
A
C
A
A
T
G
G
T
T
G
T
A
T
A
A
A
C
C
A
G
11000
G
G
T
G
G
A
A
A
T
C
C
A
T
G
A
A
C
A
G
G
A
C
C
C
G
C
A
A
T
A
G
G
C
C
C
A
T
G
T
C
T
G
T
G
T
G
G
A
T
G
11050
G
A
G
A
T
T
G
G
A
G
A
A
G
C
A
T
T
T
T
G
C
A
T
C
C
A
A
G
A
T
A
G
A
A
C
C
A
G
A
G
G
T
C
T
T
G
A
C
A
G
11100
C
A
G
G
T
G
T
T
C
A
T
G
G
G
T
A
A
G
A
C
G
G
T
T
C
A
C
A
C
C
T
T
G
C
T
G
C
T
G
T
T
C
C
A
G
C
A
A
G
A
11150
G
C
T
A
T
G
G
C
C
A
ACCCAACTTG CTCAGAGGAA GGCTGTGGGC AAAACAGGAA
11200
T
T
T
T
C
T
T
T
T
T
C
T
T
T
T
T
T
T
T
T
T
A
G
A
G
T
C
A
A
G
G
T
C
T
C
A
C
T
C
T
G
T
T
G
C
C
C
A
G
G
11250 |
REPEAT
C
T
G
G
A
G
C
G
C
A
G
T
G
A
C
G
T
G
A
T
C
C
T
A
G
C
T
C
A
C
T
G
C
A
G
C
C
T
C
A
A
A
C
T
C
C
T
G
G
G
11300 |
var(11278):[T:0.01]
C
T
C
A
A
G
C
G
A
T
C
C
T
C
C
T
G
T
C
T
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
T
T
G
G
G
A
C
T
A
C
A
A
T
C
A
11350
C
A
C
A
C
C
A
C
C
A
T
G
C
C
T
G
G
C
T
A
A
T
T
G
T
T
T
T
C
A
T
C
T
T
T
G
T
A
G
A
G
T
T
G
G
A
G
T
C
T
11400
C
G
C
T
A
T
G
T
T
G
C
C
C
A
G
A
A
T
G
G
T
C
T
G
G
A
A
C
T
C
C
C
A
G
G
GCAGA AATTTTTAGC
11450
CTTGGCCCAT CTGGTGTTCA GTTCTCCCTT CTTTATTTTA TTTTTTTAAT
11500
TTTTTTGAGG GTGGAGGATT TTAGC
A
A
A
A
A
A
C
A
G
A
A
A
G
C
C
T
G
C
T
A
G
A
C
A
A
11550 |
REPEAT
A
T
T
C
T
A
A
A
A
G
A
G
C
T
G
T
A
A
C
A
C
T
AGTTCTCC CTCCTTCATC TCACATGCAC
11600
AACCGCCTCC TT
T
G
T
G
C
T
G
G
G
A
G
C
C
A
G
A
G
A
T
A
C
A
G
C
A
A
C
A
A
A
T
C
C
A
A
C
A
T
11650 |
REPEAT
G
G
T
C
C
T
T
T
C
C
T
T
G
A
G
G
A
A
C
T
C
A
T
G
G
T
T
T
A
G
G
G
G
G
A
A
A
A
T
T
G
A
C
AGAGAAA
11700
TGAGTCACGG TAATTCACTA GGTTCACTGC TATGGTAGAG ATCCGGAGGC
11750
AGCCTGTGGA CTATGGGAAG GCAGAGGAGG TGCTGGAAGA GCTTGCTCTG
11800
GAAGAGTGAC TCCCCAGTTT TCTTCAGCTG TAGGACCCTC TCTTCCACAT
11850
TGAAATCTCA CTTGGATCAA TATCTGTAGC TGATTAAAGA GTGGTGGCCA
11900
TGTGGTTGCA ATGGAGGGTA GGAAGCCCAG AGTCATTCCT CACAAAACCT
11950
CCTCCTCCTG TCCATGGGCT CTGGGACACC CTCTGGACTG CCCAGGATGC
12000
AGTGTGAGGA CCACTGGTCC AGAAGGAAAG GGGTGGCAGC AAAGAGGTTT
12050
AGAGGTGACT GCTGCAGGCT TGGAATCCCG GCCTGGGAGA TCCAGGAAGG
12100
GCTTTTGCGT AACCAGCATG GAGGTGACTT GATGAGCAGG TGGGGAAAGA
12150
GACCTCAGGC CCTAGTTTGG GGGAGTCTCT CATCTCCTCC TTTCCTGGAC
12200
ACAG
G
A
C
A
G
A
G
G
T
G
T
T
C
C
G
G
G
A
G
G
A
G
C
T
G
G
G
G
G
C
C
C
G
G
C
C
A
G
A
T
G
C
C
A
C
C
12250 | Exon 8
T E V F R E E L G A R P D A T 256
A
A
A
G
T
G
C
T
T
A
T
C
A
T
C
A
T
C
A
C
G
G
A
T
G
G
G
G
A
G
G
C
C
A
C
T
G
A
C
A
G
T
G
G
C
A
A
C
A
T
12300
K V L I I I T D G E A T D S G N I 273
C
G
A
T
G
C
G
G
C
C
A
A
A
G
A
C
A
T
C
A
T
C
C
G
C
T
A
C
A
T
C
A
T
C
G
G
G
GTA GGGCCCCTGC
12350
D A A K D I I R Y I I G 285
TGCTTCCTGC ATCATATCTT CCCTCTCCTC TTTCTGAACC CCAAGCCCCT
12400
TTCTCCCTGG GGCCAGACTC TTGTGAAAAT AATAGCAAAC TGGACTGAGG
12450
TTTGGGGGAT TTCAGCTC
C
T CACTCTCCAC TCCCTCACAG
A
T
T
G
G
A
A
A
G
C
12500 |
var(12469):[T:0.28]
| Exon 9
I G K 288
A
T
T
T
T
C
A
G
A
C
C
A
A
G
G
A
G
A
G
T
C
A
G
G
A
G
A
C
C
C
T
C
C
A
C
A
A
A
T
T
T
G
C
A
T
C
A
A
A
A
12550
H F Q T K E S Q E T L H K F A S K 305
C
C
C
G
C
G
A
G
C
G
A
G
T
T
T
G
T
G
A
A
A
A
T
T
C
T
G
G
A
C
A
C
A
T
T
T
G
A
G
A
A
G
C
T
G
A
A
A
G
A
12600 |
var(12553):[T:0.05]
P A S E F V K I L D T F E K L K D 322
T
C
T
A
T
T
C
A
C
T
G
A
G
C
T
G
C
A
G
A
A
G
A
A
G
A
T
C
T
A
T
G
T
C
A
T
T
G
A
G
G
GTGAGTGGC
12650
L F T E L Q K K I Y V I E 335
AGGCCCTGGG AGAGGGCTCG GGAGTCTGCA TAAAGAAATT CCCCTGGGAC
12700
ATCA
G
G
C
C
G
G
G
C
T
C
G
G
T
G
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
12750 |
REPEAT
|
var(12709):[A:0.32]
|
var(12714):[T:0.28]
C
C
G
A
G
G
C
A
G
G
T
G
G
A
T
C
A
A
T
T
G
A
G
C
T
C
A
G
G
A
G
T
T
T
G
A
G
A
C
C
A
G
C
C
T
G
G
G
C
A
12800
A
C
A
T
G
G
C
A
A
A
A
C
C
C
C
A
T
C
T
A
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
A
T
A
G
C
C
A
G
G
T
G
T
G
12850
G
T
G
G
T
G
G
G
T
G
C
C
T
G
T
A
A
T
C
C
C
A
C
T
A
C
T
C
A
G
G
A
G
G
C
T
G
A
G
G
C
G
C
A
A
G
A
A
T
C
12900
G
C
T
T
G
A
A
C
T
C
A
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
A
A
G
A
T
C
G
C
A
C
C
A
C
A
C
T
12950
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
T
G
G
C
A
G
A
G
G
A
A
G
A
C
T
C
C
A
T
T
T
C
A
A
A
A
A
A
T
A
A
A
A
A
A
13000
C
A
A
A
A
A
A
C
A
A
A
A
A
T
G
G
C
C
G
G
A
C
G
C
G
G
T
G
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
13050 |
REPEAT
|
var(13025):[A:0.05]
C
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
T
G
G
G
C
A
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
C
G
A
G
A
C
C
13100
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
G
C
G
A
A
A
C
C
C
C
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
13150
G
C
T
G
G
G
C
T
T
G
G
T
G
G
T
G
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
A
G
G
G
G
G
C
T
G
A
G
13200
G
C
A
G
G
A
G
A
A
T
C
G
C
T
T
G
A
A
C
C
C
A
G
G
A
G
G
C
G
G
A
G
G
T
T
G
T
A
G
T
G
A
G
C
T
G
A
G
A
T
13250
G
T
G
C
C
A
T
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
C
A
G
C
A
A
G
A
C
T
C
A
G
T
C
T
C
A
A
A
C
A
13300
A
A
A
C
A
A
A
A
C
A
A
A
A
C
A
A
A
A
A
A
A
C
CAAAAAAA AACCTCCCCT GGGACATCCT
13350 |
var(13322):[:0.97]
ATTAGAAACA CAAAGAATAA TAAGCACTTA CTGAATATCT GATCTTGTGC
13400
CAAGGGCTTG CCTAAATAAA ACAGACCTTT AGAAGGAATT TAGGAGAGGG
13450
CCATTTGAGA GCAGCCTC
T
G TGATCTTTCT TTCTCTTCCT TCTTTCTCTC
13500 |
var(13469):[C:0.15]
CTTCCTTCCT
T
C
C
T
CCCTTC CTTCCCTTT
C
CCTCTCCTCC CCTCCCCTCT
13550 |
var(13511):[:0.01]
|
var(13530):[T:0.05]
CCTCCCCTCT CCTCCCCCCT TCCTCTCCCC TCCTCTTCTC TTC
T
T
T
T
C
T
C
13600 |
REPEAT
T
T
C
T
C
T
C
T
T
T
T
C
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
A
G
A
G
T
C
T
T
G
C
T
C
T
G
T
T
G
C
C
C
A
G
13650 |
NOT SCANNED
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
G
C
A
G
T
C
T
C
T
G
C
T
C
A
C
T
G
C
A
A
G
C
T
C
C
A
C
T
T
C
C
C
A
G
13700
G
C
T
C
A
C
G
C
C
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
G
A
G
C
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
C
13750
G
C
C
A
G
C
C
A
C
C
A
C
G
C
C
T
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
A
G
G
G
T
T
13800
T
C
A
T
C
G
T
G
T
T
A
G
C
C
A
G
G
A
T
G
A
T
C
T
C
G
A
T
C
T
G
A
C
C
T
C
G
T
G
A
C
C
T
G
C
C
C
G
C
C
13850
T
T
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
A
G
C
C
A
C
T
G
C
G
C
C
C
A
G
C
C
13900
T
C
T
T
T
T
C
T
T
T
T
T
T
G
C
T
T
T
T
C
T
T
T
C
A
C
A
G
G
G
T
C
T
C
A
C
T
C
T
G
T
C
A
C
C
C
A
G
G
C
13950 |
REPEAT
T
G
G
G
G
T
A
C
A
G
T
G
G
C
A
T
G
A
T
C
A
C
A
G
C
T
C
A
C
T
G
C
A
G
C
C
T
T
G
A
C
C
T
T
C
C
A
G
G
C
14000
T
C
A
G
G
T
G
A
T
C
C
T
C
C
C
A
C
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
T
G
T
G
T
G
A
T
A
C
C
A
C
A
C
C
14050
T
G
G
C
T
A
A
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
T
A
T
T
T
T
T
T
G
T
A
T
T
T
T
T
T
G
T
A
G
A
G
G
C
14100
A
G
G
G
A
T
C
T
C
G
C
T
A
T
G
T
T
G
C
C
T
G
G
G
C
T
G
G
T
C
T
C
G
A
A
T
T
C
C
T
G
G
C
C
C
C
A
A
G
C
14150
A
A
T
C
T
G
C
C
C
A
C
C
T
C
G
G
C
C
T
C
C
T
A
A
A
G
T
G
C
T
A
G
G
A
T
T
A
C
A
G
G
C
G
T
G
A
G
C
C
A
14200 |
var(14165):[A:0.01]
C
T
G
C
A
C
C
C
G
G
C
C
CTCTCTGA TATTTCTTTC TGAAATTCCA TCTTCTCTTG
14250
GAGCTCAGGT TGATCTAGGA CTGACCTATG TCTTGCTGGT GTGATCTGAG
14300
CCCCGCAGAG TGAATGTAAT TCCTCCCCCT TCTTGCTCAA CTGTCTTGCT
14350
GTCACTTATC CAAGGCTCCA CATTACTTCA GAAGGGCAGG CTGGCAGGGG
14400
CCAGTGTGAA GAACCCACAA GTCTTCTTTC CTGGCCTAGA ATAAGAGAAG
14450
ATTTATATTG TGGTCACCAG ATGGAGGACT GGTTATGGAG GGCATTTCCC
14500
CAGGAAGCTT ACTTGACTGA AAGATATGTG ATTCCTACAG GAA
A
G
T
C
T
C
C
14550 |
NOT SCANNED
T
T
T
G
C
T
A
G
G
A
C
A
C
A
G
C
C
T
T
G
G
T
G
T
T
C
G
G
T
T
C
A
G
T
T
A
A
A
G
A
A
G
C
A
A
T
G
G
G
C
14600 |
REPEAT
T
G
A
G
C
G
T
G
G
T
G
G
C
T
C
A
C
G
C
T
T
G
T
C
A
T
C
C
C
A
A
C
A
C
T
C
T
G
G
G
A
G
G
C
T
G
A
G
G
C
14650
A
G
G
C
G
G
A
T
C
A
C
T
T
G
A
G
G
T
C
A
C
C
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
T
A
A
A
G
T
A
G
G
A
G
A
14700
A
T
C
G
C
T
T
G
A
A
C
C
C
A
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
T
G
A
G
A
T
T
G
T
G
A
C
A
C
14750
T
G
T
A
C
T
C
C
A
G
C
C
T
G
G
G
T
G
A
C
A
A
G
A
G
C
A
A
A
A
C
T
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
14800
A
A
A
T
C
A
G
C
A
G
C
A
A
T
G
G
T
C
C
A
G
C
C
T
G
G
G
C
A
G
C
A
T
A
G
C
A
A
G
A
A
G
C
C
A
T
G
T
C
T
14850
A
A
A
T
A
A
T
T
A
A
T
A
A
A
A
A
T
G
A
A
A
A
G
T
G
A
T
T
T
T
T
T
A
A
A
A
A
A
A
A
G
T
T
T
T
T
A
A
A
A
14900
A
A
A
A
C
T
C
A
C
T
C
T
C
A
A
C
T
G
G
C
T
T
T
T
A
A
G
C
T
G
A
G
A
T
A
T
G
A
A
A
G
A
T
G
A
G
A
T
T
C
14950 |
REPEAT
A
A
A
C
A
G
C
A
A
T
G
T
G
A
G
A
A
A
G
G
T
G
G
A
A
T
G
A
G
G
G
C
A
G
A
G
A
G
A
A
G
C
A
C
A
G
G
T
G
C
15000
A
A
G
C
C
C
A
G
G
G
G
C
G
G
G
G
A
A
A
G
G
G
C
T
C
G
G
C
A
T
G
C
C
A
G
G
A
A
A
A
T
G
G
A
A
A
A
A
G
T
15050
T
C
A
G
T
G
T
G
A
C
C
G
A
A
G
C
G
C
A
G
T
G
A
G
G
A
A
G
G
G
A
G
A
G
A
G
A
A
G
G
T
T
G
G
C
A
G
G
G
A
15100
G
G
T
A
A
G
G
G
T
C
T
T
C
C
A
G
G
C
C
C
T
C
A
G
A
A
A
G
A
G
T
T
T
G
G
A
T
T
T
C
A
G
T
G
T
G
A
A
G
A
15150
T
C
G
A
T
G
A
G
A
A
A
T
C
A
T
G
A
A
G
G
A
G
T
T
T
T
T
T
G
T
T
G
T
T
G
T
T
G
T
T
T
T
G
A
G
A
C
A
G
G
15200 |
REPEAT
G
A
C
T
C
A
C
T
C
T
G
T
T
G
C
C
C
A
G
A
C
T
G
G
A
G
T
G
C
A
G
T
A
G
T
G
C
G
A
T
C
A
C
G
G
C
T
C
A
C
15250
T
G
C
A
G
C
C
T
C
A
A
A
C
T
C
C
T
G
G
G
C
T
C
A
A
G
C
A
G
T
C
C
T
C
C
C
A
C
C
T
T
G
A
C
C
T
C
C
T
G
15300
A
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
A
T
A
C
A
C
A
C
C
A
C
C
A
C
A
C
C
T
G
G
C
T
A
A
T
T
T
T
T
A
A
A
T
15350
T
T
T
T
T
G
T
A
G
A
G
A
C
A
A
G
A
G
T
T
T
C
T
T
A
G
C
C
A
G
G
C
G
T
G
G
T
G
G
C
G
G
G
C
G
C
C
T
G
T
15400 |
REPEAT
A
G
T
C
C
C
A
G
C
T
A
C
T
C
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
G
G
C
G
T
G
A
A
T
C
C
T
G
G
A
15450
G